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NM_001267550.2(TTN):c.75194A>G (p.His25065Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 21, 2020
Accession:
VCV000332781.5
Variation ID:
332781
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.75194A>G (p.His25065Arg)

Allele ID
283252
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178570938 (GRCh38) GRCh38 UCSC
2: 179435665 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.179435665T>C
NC_000002.12:g.178570938T>C
NG_011618.3:g.264865A>G
... more HGVS
Protein change
H22497R, H25065R, H16000R, H16125R, H16192R, H23424R
Other names
-
Canonical SPDI
NC_000002.12:178570937:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00027
1000 Genomes Project 0.00060
Exome Aggregation Consortium (ExAC) 0.00029
Links
ClinGen: CA1990089
dbSNP: rs182161195
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000315306.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000344514.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000365719.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000393320.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000401598.2
Benign 1 criteria provided, single submitter Aug 21, 2020 RCV000862066.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7638 17883
TTN-AS1 - - - GRCh38 - 10017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000421786.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, early-onset, with fatal cardiomyopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000421783.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Tibial muscular dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000421784.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, myofibrillar, 9, with early respiratory failure
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000421788.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000421785.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Aug 21, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1G
Limb-girdle muscular dystrophy, type 2J
Allele origin: germline
Invitae
Accession: SCV001002505.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs182161195...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 06, 2021